Articles by author - Katarzyna Maciaszczyk

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.

Maciaszczyk K, Lewiński A.

Journal Article 2008; 29(1): 29-36 PubMed PMID: 18283249  Keywords:  Hearing Loss:genetics, Humans, Membrane Transport Proteins:genetics, Mutation:genetics, Phenotype, Syndrome, Vestibular Aqueduct:abnormalities,.    Citation

: This paper presents the current views, regarding the pathomechanisms, which lead to the development of pathological symptoms in the enla.....

Read abstract  Full text PDF